Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 8 1 1999 2013
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 1 2006 2014
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1
ATPase H+ transporting V1 subunit B1 0.695 0.346 2.4E-09
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 9 1 1995 2017
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 27 2 1988 2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 21 2 1992 2017
Entrez Id: 549
Gene Symbol: AUH
AUH
AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 4 1 2003 2010
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 8 1968 2013
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 25 1 2000 2018
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 19 2 2003 2016
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 1 2007 2013
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
beta-1,3-N-acetylgalactosaminyltransferase 2 0.578 0.577 2.8E-07
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 8 2 1991 2016
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1
beta-1,4-N-acetyl-galactosaminyltransferase 1 0.644 0.615 3.9E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 1 2013 2014
Entrez Id: 686
Gene Symbol: BTD
BTD
biotinidase 0.628 0.654 1.5E-07
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 1 1998 2017
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
BRCA1 associated ATM activator 1 0.695 0.231 7.4E-13
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 9 1 2006 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 3 1998 2011
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 2 2 2017 2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 19 1 1995 2017
Entrez Id: 846
Gene Symbol: CASR
CASR
calcium sensing receptor 0.410 0.846 4.7E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 2 2010 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 46 4 1988 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 13 1 2008 2015
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
calmodulin binding transcription activator 1 0.599 0.615 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 8 1 2006 2015
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1
casein kinase 2 alpha 1 0.597 0.731 0.99
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.120 None 1.000 6 1 2008 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 22 4 1991 2017
Entrez Id: 867
Gene Symbol: CBL
CBL
Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 7 1 2010 2017
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CCCTC-binding factor 0.504 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 4 2008 2017